NM_003283.6(TNNT1):c.-20A>G
|
rs9636153
|
0.84878
|
NM_001256715.2(DNAAF3):c.1239-8A>G
|
rs28377509
|
0.36480
|
NM_000363.5(TNNI3):c.25-8T>A
|
rs3729836
|
0.35138
|
NM_015164.4(PLEKHM2):c.2148G>A (p.Thr716=)
|
rs3817269
|
0.34895
|
NM_001256715.2(DNAAF3):c.1056G>A (p.Pro352=)
|
rs891187
|
0.29351
|
NM_015164.4(PLEKHM2):c.942-16G>A
|
rs41393951
|
0.27448
|
NM_001256715.2(DNAAF3):c.666T>C (p.Ala222=)
|
rs7260320
|
0.27290
|
NM_015164.4(PLEKHM2):c.95T>C (p.Ile32Thr)
|
rs12091750
|
0.25159
|
NM_001256715.2(DNAAF3):c.875A>G (p.Glu292Gly)
|
rs2365725
|
0.24847
|
NM_001256715.2(DNAAF3):c.790-14C>T
|
rs7260371
|
0.24759
|
NM_015164.4(PLEKHM2):c.291G>A (p.Leu97=)
|
rs16851970
|
0.22866
|
NM_015164.4(PLEKHM2):c.61-7del
|
rs66610224
|
0.19529
|
NM_000363.5(TNNI3):c.-35C>A
|
rs3729707
|
0.07367
|
NM_000363.5(TNNI3):c.150+13G>A
|
rs73617692
|
0.07353
|
NM_003283.6(TNNT1):c.35A>G (p.Glu12Gly)
|
rs112562759
|
0.06801
|
NM_001256715.2(DNAAF3):c.1164-14C>T
|
rs60176657
|
0.06188
|
NM_001256715.2(DNAAF3):c.510A>G (p.Val170=)
|
rs56726774
|
0.06016
|
NM_001256715.2(DNAAF3):c.1001T>C (p.Leu334Pro)
|
rs890871
|
0.05642
|
NM_001256715.2(DNAAF3):c.327A>G (p.Arg109=)
|
rs3848618
|
0.05626
|
NM_001256715.2(DNAAF3):c.529G>A (p.Gly177Ser)
|
rs58824375
|
0.05620
|
NM_015164.4(PLEKHM2):c.1242C>T (p.Ile414=)
|
rs7517033
|
0.04763
|
NM_003283.6(TNNT1):c.33-8G>A
|
rs76630067
|
0.04332
|
NM_000363.5(TNNI3):c.198G>A (p.Glu66=)
|
rs3729710
|
0.03372
|
NM_001256715.2(DNAAF3):c.1405G>A (p.Val469Met)
|
rs114601492
|
0.00882
|
NM_015164.4(PLEKHM2):c.1084C>G (p.Arg362Gly)
|
rs61738983
|
0.00778
|
NM_015164.4(PLEKHM2):c.2211A>G (p.Ala737=)
|
rs116455686
|
0.00746
|
NM_000363.5(TNNI3):c.244C>T (p.Pro82Ser)
|
rs77615401
|
0.00699
|
NM_000363.4(TNNI3):c.-148A>G
|
rs73935313
|
0.00695
|
NM_015164.4(PLEKHM2):c.942-3C>T
|
rs138211346
|
0.00495
|
NM_015164.4(PLEKHM2):c.561C>T (p.His187=)
|
rs115985482
|
0.00431
|
NM_015164.4(PLEKHM2):c.891G>C (p.Glu297Asp)
|
rs61738982
|
0.00346
|
NM_015164.4(PLEKHM2):c.1797C>T (p.His599=)
|
rs150750784
|
0.00309
|
NM_015164.4(PLEKHM2):c.2329A>G (p.Met777Val)
|
rs181186746
|
0.00219
|
NM_001256715.2(DNAAF3):c.531C>T (p.Gly177=)
|
rs559008223
|
0.00192
|
NM_015164.4(PLEKHM2):c.1060C>T (p.Arg354Cys)
|
rs143372200
|
0.00175
|
NM_015164.4(PLEKHM2):c.2228G>A (p.Arg743His)
|
rs200700186
|
0.00170
|
NM_015164.4(PLEKHM2):c.2805+19C>T
|
rs116131488
|
0.00156
|
NM_015164.4(PLEKHM2):c.432C>T (p.Ser144=)
|
rs201860640
|
0.00147
|
NM_015164.4(PLEKHM2):c.942-7G>A
|
rs200670249
|
0.00146
|
NM_015164.4(PLEKHM2):c.2209-19G>A
|
rs201270093
|
0.00144
|
NM_000363.5(TNNI3):c.-85A>C
|
rs186540595
|
0.00142
|
NM_015164.4(PLEKHM2):c.2961C>A (p.Asn987Lys)
|
rs189025469
|
0.00135
|
NM_015164.4(PLEKHM2):c.61-7C>T
|
rs76932674
|
0.00122
|
NM_015164.4(PLEKHM2):c.2209-14C>T
|
rs189697701
|
0.00111
|
NM_015164.4(PLEKHM2):c.1987-18C>T
|
rs377297774
|
0.00106
|
NM_000363.5(TNNI3):c.-103C>T
|
rs557391836
|
0.00102
|
NM_015164.4(PLEKHM2):c.168-13C>T
|
rs372254087
|
0.00101
|
NM_015164.4(PLEKHM2):c.2406G>T (p.Gly802=)
|
rs116565708
|
0.00093
|
NM_015164.4(PLEKHM2):c.278-17C>T
|
rs191383513
|
0.00083
|
NM_015164.4(PLEKHM2):c.357G>C (p.Leu119=)
|
rs201114976
|
0.00081
|
NM_015164.4(PLEKHM2):c.1286G>A (p.Arg429His)
|
rs61739679
|
0.00075
|
NM_015164.4(PLEKHM2):c.1986+13C>T
|
rs201099827
|
0.00058
|
NM_015164.4(PLEKHM2):c.713-5C>A
|
rs200559886
|
0.00054
|
NM_015164.4(PLEKHM2):c.2346G>A (p.Ala782=)
|
rs368873177
|
0.00051
|
NM_015164.4(PLEKHM2):c.1357G>A (p.Asp453Asn)
|
rs576329050
|
0.00050
|
NM_015164.4(PLEKHM2):c.1165T>G (p.Ser389Ala)
|
rs200354338
|
0.00043
|
NM_015164.4(PLEKHM2):c.2067G>A (p.Ala689=)
|
rs371186259
|
0.00036
|
NM_015164.4(PLEKHM2):c.162G>A (p.Leu54=)
|
rs199666070
|
0.00035
|
NM_015164.4(PLEKHM2):c.1265A>G (p.Asp422Gly)
|
rs376306853
|
0.00034
|
NM_015164.4(PLEKHM2):c.1677C>T (p.Ser559=)
|
rs200036096
|
0.00034
|
NM_015164.4(PLEKHM2):c.1987-17G>A
|
rs373891163
|
0.00034
|
NM_015164.4(PLEKHM2):c.2566G>A (p.Glu856Lys)
|
rs145743094
|
0.00034
|
NM_015164.4(PLEKHM2):c.3044G>A (p.Arg1015Gln)
|
rs199904231
|
0.00032
|
NM_015164.4(PLEKHM2):c.1221G>A (p.Gly407=)
|
rs558893831
|
0.00030
|
NM_015164.4(PLEKHM2):c.1163G>A (p.Arg388His)
|
rs750156567
|
0.00027
|
NM_015164.4(PLEKHM2):c.2571C>T (p.Ser857=)
|
rs72647153
|
0.00023
|
NM_015164.4(PLEKHM2):c.658G>A (p.Asp220Asn)
|
rs375501738
|
0.00022
|
NM_015164.4(PLEKHM2):c.1495G>T (p.Ala499Ser)
|
rs202014397
|
0.00021
|
NM_015164.4(PLEKHM2):c.1738A>G (p.Met580Val)
|
rs375845025
|
0.00021
|
NM_015164.4(PLEKHM2):c.2823C>G (p.Ser941Arg)
|
rs749682801
|
0.00021
|
NM_015164.4(PLEKHM2):c.2949G>A (p.Gln983=)
|
rs369859488
|
0.00020
|
NM_015164.4(PLEKHM2):c.153C>T (p.His51=)
|
rs200766805
|
0.00019
|
NM_015164.4(PLEKHM2):c.2224G>A (p.Val742Met)
|
rs531140342
|
0.00019
|
NM_015164.4(PLEKHM2):c.2586C>T (p.Ala862=)
|
rs372889182
|
0.00019
|
NM_015164.4(PLEKHM2):c.306C>T (p.Asn102=)
|
rs778821268
|
0.00019
|
NM_015164.4(PLEKHM2):c.2518G>A (p.Ala840Thr)
|
rs199578594
|
0.00018
|
NM_015164.4(PLEKHM2):c.745C>T (p.Arg249Cys)
|
rs61738981
|
0.00018
|
NM_015164.4(PLEKHM2):c.1115C>T (p.Pro372Leu)
|
rs199741495
|
0.00016
|
NM_015164.4(PLEKHM2):c.1921+9C>T
|
rs369417226
|
0.00015
|
NM_015164.4(PLEKHM2):c.2481T>C (p.Gly827=)
|
rs1327446268
|
0.00015
|
NM_015164.4(PLEKHM2):c.1349C>T (p.Pro450Leu)
|
rs200715563
|
0.00014
|
NM_015164.4(PLEKHM2):c.1812C>T (p.Asn604=)
|
rs370851992
|
0.00014
|
NM_015164.4(PLEKHM2):c.1967A>G (p.Asn656Ser)
|
rs547769286
|
0.00014
|
NM_015164.4(PLEKHM2):c.2971T>C (p.Phe991Leu)
|
rs201091991
|
0.00014
|
NM_015164.4(PLEKHM2):c.732G>A (p.Thr244=)
|
rs372990044
|
0.00014
|
NM_015164.4(PLEKHM2):c.1338G>A (p.Pro446=)
|
rs766745026
|
0.00013
|
NM_015164.4(PLEKHM2):c.820G>A (p.Glu274Lys)
|
rs552932422
|
0.00013
|
NM_015164.4(PLEKHM2):c.1050C>T (p.Asp350=)
|
rs370961093
|
0.00011
|
NM_015164.4(PLEKHM2):c.1251C>T (p.Leu417=)
|
rs749126712
|
0.00011
|
NM_015164.4(PLEKHM2):c.2199G>A (p.Ser733=)
|
rs373219875
|
0.00011
|
NM_015164.4(PLEKHM2):c.2766C>T (p.Ser922=)
|
rs199811699
|
0.00011
|
NM_015164.4(PLEKHM2):c.278-13C>T
|
rs371787019
|
0.00011
|
NM_015164.4(PLEKHM2):c.3035G>A (p.Arg1012Gln)
|
rs533946132
|
0.00011
|
NM_015164.4(PLEKHM2):c.858C>T (p.Thr286=)
|
rs763524736
|
0.00011
|
NM_015164.4(PLEKHM2):c.909G>A (p.Pro303=)
|
rs753956705
|
0.00011
|
NM_015164.4(PLEKHM2):c.3029G>A (p.Arg1010His)
|
rs745963513
|
0.00010
|
NM_015164.4(PLEKHM2):c.2465+12G>A
|
rs370100069
|
0.00009
|
NM_015164.4(PLEKHM2):c.2530A>T (p.Ile844Phe)
|
rs770529447
|
0.00009
|
NM_015164.4(PLEKHM2):c.277+20C>T
|
rs769633582
|
0.00009
|
NM_015164.4(PLEKHM2):c.30C>T (p.Ile10=)
|
rs780010080
|
0.00009
|
NM_015164.4(PLEKHM2):c.1313G>A (p.Arg438Gln)
|
rs370277036
|
0.00008
|
NM_015164.4(PLEKHM2):c.1914C>T (p.Leu638=)
|
rs572679523
|
0.00008
|
NM_015164.4(PLEKHM2):c.2265C>T (p.Asp755=)
|
rs370580485
|
0.00008
|
NM_015164.4(PLEKHM2):c.51G>A (p.Ser17=)
|
rs370753597
|
0.00008
|
NM_015164.4(PLEKHM2):c.815T>C (p.Phe272Ser)
|
rs918240859
|
0.00008
|
NM_015164.4(PLEKHM2):c.1470G>A (p.Pro490=)
|
rs371661618
|
0.00007
|
NM_015164.4(PLEKHM2):c.1752G>A (p.Ser584=)
|
rs141219063
|
0.00007
|
NM_015164.4(PLEKHM2):c.1921+7G>A
|
rs370152002
|
0.00007
|
NM_015164.4(PLEKHM2):c.2215G>T (p.Ala739Ser)
|
rs751676919
|
0.00007
|
NM_015164.4(PLEKHM2):c.3012G>C (p.Arg1004=)
|
rs754312823
|
0.00007
|
NM_015164.4(PLEKHM2):c.541C>T (p.Arg181Cys)
|
rs780487076
|
0.00007
|
NM_015164.4(PLEKHM2):c.828G>A (p.Pro276=)
|
rs747984540
|
0.00007
|
NM_015164.4(PLEKHM2):c.912G>A (p.Pro304=)
|
rs374305593
|
0.00007
|
NM_015164.4(PLEKHM2):c.1085G>A (p.Arg362Gln)
|
rs370612427
|
0.00006
|
NM_015164.4(PLEKHM2):c.1255G>A (p.Gly419Arg)
|
rs199522123
|
0.00006
|
NM_015164.4(PLEKHM2):c.1346C>T (p.Pro449Leu)
|
rs542799086
|
0.00006
|
NM_015164.4(PLEKHM2):c.1438G>A (p.Gly480Ser)
|
rs376758113
|
0.00006
|
NM_015164.4(PLEKHM2):c.1957G>A (p.Val653Ile)
|
rs746715478
|
0.00006
|
NM_015164.4(PLEKHM2):c.1986+7C>T
|
rs766827340
|
0.00006
|
NM_015164.4(PLEKHM2):c.2109C>T (p.Ile703=)
|
rs1172713973
|
0.00006
|
NM_015164.4(PLEKHM2):c.2209-7G>A
|
rs528624714
|
0.00006
|
NM_015164.4(PLEKHM2):c.2289C>T (p.Cys763=)
|
rs762871052
|
0.00006
|
NM_015164.4(PLEKHM2):c.2404G>A (p.Gly802Arg)
|
rs745867909
|
0.00006
|
NM_015164.4(PLEKHM2):c.2689C>T (p.Arg897Cys)
|
rs375841573
|
0.00006
|
NM_015164.4(PLEKHM2):c.2757C>T (p.Gly919=)
|
rs377066447
|
0.00006
|
NM_015164.4(PLEKHM2):c.388G>A (p.Val130Ile)
|
rs550524661
|
0.00006
|
NM_015164.4(PLEKHM2):c.461A>T (p.Asp154Val)
|
rs764894986
|
0.00006
|
NM_015164.4(PLEKHM2):c.505T>C (p.Tyr169His)
|
rs752340656
|
0.00006
|
NM_015164.4(PLEKHM2):c.819C>T (p.Asn273=)
|
rs374011612
|
0.00006
|
NM_015164.4(PLEKHM2):c.924G>A (p.Thr308=)
|
rs542980745
|
0.00006
|
NM_015164.4(PLEKHM2):c.98C>T (p.Pro33Leu)
|
rs760374432
|
0.00006
|
NM_015164.4(PLEKHM2):c.1293G>A (p.Glu431=)
|
rs376029514
|
0.00005
|
NM_015164.4(PLEKHM2):c.131G>A (p.Arg44His)
|
rs750819902
|
0.00005
|
NM_015164.4(PLEKHM2):c.2676C>T (p.Val892=)
|
rs373165364
|
0.00005
|
NM_015164.4(PLEKHM2):c.2700G>A (p.Thr900=)
|
rs763833499
|
0.00005
|
NM_015164.4(PLEKHM2):c.2916C>T (p.Ile972=)
|
rs367782869
|
0.00005
|
NM_015164.4(PLEKHM2):c.2939C>T (p.Thr980Met)
|
rs571532775
|
0.00005
|
NM_015164.4(PLEKHM2):c.333G>A (p.Arg111=)
|
rs776837720
|
0.00005
|
NM_015164.4(PLEKHM2):c.501C>T (p.Pro167=)
|
rs759336254
|
0.00005
|
NM_015164.4(PLEKHM2):c.631G>A (p.Ala211Thr)
|
rs751230545
|
0.00005
|
NM_015164.4(PLEKHM2):c.6G>A (p.Glu2=)
|
rs746122788
|
0.00005
|
NM_001079802.2(FKTN):c.397A>G (p.Met133Val)
|
rs569778463
|
0.00004
|
NM_015164.4(PLEKHM2):c.1092G>A (p.Ser364=)
|
rs770053185
|
0.00004
|
NM_015164.4(PLEKHM2):c.1158C>T (p.Ser386=)
|
rs372178116
|
0.00004
|
NM_015164.4(PLEKHM2):c.1177C>G (p.Leu393Val)
|
rs374197596
|
0.00004
|
NM_015164.4(PLEKHM2):c.1214G>A (p.Arg405His)
|
rs369908043
|
0.00004
|
NM_015164.4(PLEKHM2):c.1254C>T (p.Asn418=)
|
rs759205632
|
0.00004
|
NM_015164.4(PLEKHM2):c.1680G>A (p.Pro560=)
|
rs369446815
|
0.00004
|
NM_015164.4(PLEKHM2):c.1733C>T (p.Ser578Leu)
|
rs540693679
|
0.00004
|
NM_015164.4(PLEKHM2):c.1848C>T (p.Thr616=)
|
rs375314550
|
0.00004
|
NM_015164.4(PLEKHM2):c.2030G>A (p.Arg677His)
|
rs899766875
|
0.00004
|
NM_015164.4(PLEKHM2):c.2054C>T (p.Thr685Met)
|
rs1160636602
|
0.00004
|
NM_015164.4(PLEKHM2):c.2055G>A (p.Thr685=)
|
rs754304191
|
0.00004
|
NM_015164.4(PLEKHM2):c.2076-4G>A
|
rs772810642
|
0.00004
|
NM_015164.4(PLEKHM2):c.2235C>T (p.Tyr745=)
|
rs748350290
|
0.00004
|
NM_015164.4(PLEKHM2):c.2266G>A (p.Glu756Lys)
|
rs571147456
|
0.00004
|
NM_015164.4(PLEKHM2):c.2412C>T (p.Leu804=)
|
rs912422634
|
0.00004
|
NM_015164.4(PLEKHM2):c.2434G>A (p.Asp812Asn)
|
rs760046299
|
0.00004
|
NM_015164.4(PLEKHM2):c.2454G>A (p.Ser818=)
|
rs753199818
|
0.00004
|
NM_015164.4(PLEKHM2):c.2509C>T (p.Arg837Trp)
|
rs374236339
|
0.00004
|
NM_015164.4(PLEKHM2):c.2538C>T (p.Ser846=)
|
rs372464687
|
0.00004
|
NM_015164.4(PLEKHM2):c.2651G>A (p.Ser884Asn)
|
rs768068764
|
0.00004
|
NM_015164.4(PLEKHM2):c.2758G>A (p.Asp920Asn)
|
rs200570089
|
0.00004
|
NM_015164.4(PLEKHM2):c.2770G>A (p.Val924Ile)
|
rs754516943
|
0.00004
|
NM_015164.4(PLEKHM2):c.3031G>A (p.Gly1011Ser)
|
rs775573162
|
0.00004
|
NM_015164.4(PLEKHM2):c.400G>A (p.Asp134Asn)
|
rs373180239
|
0.00004
|
NM_015164.4(PLEKHM2):c.502G>A (p.Asp168Asn)
|
rs764949831
|
0.00004
|
NM_015164.4(PLEKHM2):c.562G>A (p.Gly188Ser)
|
rs771166429
|
0.00004
|
NM_015164.4(PLEKHM2):c.712+15G>A
|
rs751822963
|
0.00004
|
NM_015164.4(PLEKHM2):c.746G>A (p.Arg249His)
|
rs765918617
|
0.00004
|
NM_015164.4(PLEKHM2):c.760G>A (p.Asp254Asn)
|
rs369874310
|
0.00004
|
NM_015164.4(PLEKHM2):c.827C>T (p.Pro276Leu)
|
rs148791341
|
0.00004
|
NM_015164.4(PLEKHM2):c.1065C>T (p.Asn355=)
|
rs377142193
|
0.00003
|
NM_015164.4(PLEKHM2):c.1110C>T (p.Ala370=)
|
rs547428777
|
0.00003
|
NM_015164.4(PLEKHM2):c.1341G>C (p.Glu447Asp)
|
rs368687150
|
0.00003
|
NM_015164.4(PLEKHM2):c.1397G>A (p.Arg466His)
|
rs1414192320
|
0.00003
|
NM_015164.4(PLEKHM2):c.1437C>T (p.Gly479=)
|
rs983530335
|
0.00003
|
NM_015164.4(PLEKHM2):c.1543C>T (p.Arg515Trp)
|
rs747848774
|
0.00003
|
NM_015164.4(PLEKHM2):c.165C>T (p.Tyr55=)
|
rs376237330
|
0.00003
|
NM_015164.4(PLEKHM2):c.1734G>A (p.Ser578=)
|
rs767726429
|
0.00003
|
NM_015164.4(PLEKHM2):c.1956C>T (p.Ala652=)
|
rs373293972
|
0.00003
|
NM_015164.4(PLEKHM2):c.1976A>G (p.Asp659Gly)
|
rs775027447
|
0.00003
|
NM_015164.4(PLEKHM2):c.2182T>C (p.Phe728Leu)
|
rs761820612
|
0.00003
|
NM_015164.4(PLEKHM2):c.2292C>T (p.His764=)
|
rs763769257
|
0.00003
|
NM_015164.4(PLEKHM2):c.2332C>T (p.Leu778=)
|
rs370220957
|
0.00003
|
NM_015164.4(PLEKHM2):c.2389G>A (p.Val797Met)
|
rs1453645890
|
0.00003
|
NM_015164.4(PLEKHM2):c.2690G>A (p.Arg897His)
|
rs369377320
|
0.00003
|
NM_015164.4(PLEKHM2):c.2828A>G (p.Gln943Arg)
|
rs761674764
|
0.00003
|
NM_015164.4(PLEKHM2):c.3021T>C (p.Ser1007=)
|
rs571509661
|
0.00003
|
NM_015164.4(PLEKHM2):c.377+7G>A
|
rs751725867
|
0.00003
|
NM_015164.4(PLEKHM2):c.411G>A (p.Thr137=)
|
rs894960452
|
0.00003
|
NM_015164.4(PLEKHM2):c.554C>T (p.Ser185Leu)
|
rs748388504
|
0.00003
|
NM_015164.4(PLEKHM2):c.632C>T (p.Ala211Val)
|
rs373741350
|
0.00003
|
NM_015164.4(PLEKHM2):c.830C>A (p.Ala277Glu)
|
rs555141596
|
0.00003
|
NM_015164.4(PLEKHM2):c.831A>G (p.Ala277=)
|
rs533457525
|
0.00003
|
NM_015164.4(PLEKHM2):c.861C>T (p.Pro287=)
|
rs142442267
|
0.00003
|
NM_015164.4(PLEKHM2):c.862G>A (p.Val288Met)
|
rs764750661
|
0.00003
|
NM_015164.4(PLEKHM2):c.942-19C>G
|
rs578031030
|
0.00003
|
NM_015164.4(PLEKHM2):c.1015G>A (p.Ala339Thr)
|
rs1047914096
|
0.00002
|
NM_015164.4(PLEKHM2):c.1116C>G (p.Pro372=)
|
rs567266704
|
0.00002
|
NM_015164.4(PLEKHM2):c.1149G>A (p.Thr383=)
|
rs768763484
|
0.00002
|
NM_015164.4(PLEKHM2):c.1203C>G (p.Thr401=)
|
rs780336784
|
0.00002
|
NM_015164.4(PLEKHM2):c.1213C>T (p.Arg405Cys)
|
rs749518615
|
0.00002
|
NM_015164.4(PLEKHM2):c.1555G>T (p.Asp519Tyr)
|
rs770377384
|
0.00002
|
NM_015164.4(PLEKHM2):c.1921+10G>A
|
rs780341451
|
0.00002
|
NM_015164.4(PLEKHM2):c.1969G>A (p.Glu657Lys)
|
rs759249900
|
0.00002
|
NM_015164.4(PLEKHM2):c.1986+16G>A
|
rs758536871
|
0.00002
|
NM_015164.4(PLEKHM2):c.2076-8C>T
|
rs763274431
|
0.00002
|
NM_015164.4(PLEKHM2):c.2090C>G (p.Ser697Cys)
|
rs1476472457
|
0.00002
|
NM_015164.4(PLEKHM2):c.2147C>T (p.Thr716Met)
|
rs777263405
|
0.00002
|
NM_015164.4(PLEKHM2):c.2209-8C>T
|
rs1046746966
|
0.00002
|
NM_015164.4(PLEKHM2):c.2222C>A (p.Thr741Asn)
|
rs568623962
|
0.00002
|
NM_015164.4(PLEKHM2):c.2283G>A (p.Thr761=)
|
rs765057027
|
0.00002
|
NM_015164.4(PLEKHM2):c.241G>A (p.Glu81Lys)
|
rs867591890
|
0.00002
|
NM_015164.4(PLEKHM2):c.2424G>A (p.Pro808=)
|
rs368725345
|
0.00002
|
NM_015164.4(PLEKHM2):c.2433C>T (p.Thr811=)
|
rs772926237
|
0.00002
|
NM_015164.4(PLEKHM2):c.2437G>A (p.Val813Ile)
|
rs373111686
|
0.00002
|
NM_015164.4(PLEKHM2):c.2535C>G (p.Leu845=)
|
rs368350011
|
0.00002
|
NM_015164.4(PLEKHM2):c.2626-10C>G
|
rs1186234870
|
0.00002
|
NM_015164.4(PLEKHM2):c.2641G>A (p.Val881Ile)
|
rs748768806
|
0.00002
|
NM_015164.4(PLEKHM2):c.2802C>T (p.Val934=)
|
rs774362020
|
0.00002
|
NM_015164.4(PLEKHM2):c.2897A>C (p.Asn966Thr)
|
rs149249024
|
0.00002
|
NM_015164.4(PLEKHM2):c.2922+3A>G
|
rs2068164567
|
0.00002
|
NM_015164.4(PLEKHM2):c.3032G>T (p.Gly1011Val)
|
rs748976518
|
0.00002
|
NM_015164.4(PLEKHM2):c.372C>T (p.Tyr124=)
|
rs763178454
|
0.00002
|
NM_015164.4(PLEKHM2):c.399C>T (p.His133=)
|
rs570703770
|
0.00002
|
NM_015164.4(PLEKHM2):c.449G>A (p.Arg150His)
|
rs753728158
|
0.00002
|
NM_015164.4(PLEKHM2):c.540C>T (p.Asp180=)
|
rs756588992
|
0.00002
|
NM_015164.4(PLEKHM2):c.598G>A (p.Val200Ile)
|
rs775218720
|
0.00002
|
NM_015164.4(PLEKHM2):c.606C>T (p.Ser202=)
|
rs762559192
|
0.00002
|
NM_015164.4(PLEKHM2):c.687G>A (p.Pro229=)
|
rs765614073
|
0.00002
|
NM_015164.4(PLEKHM2):c.765G>C (p.Leu255=)
|
rs764552863
|
0.00002
|
NM_015164.4(PLEKHM2):c.783C>T (p.Ser261=)
|
rs1199044725
|
0.00002
|
NM_015164.4(PLEKHM2):c.809A>G (p.Asn270Ser)
|
rs1427860287
|
0.00002
|
NM_015164.4(PLEKHM2):c.942-17C>T
|
rs937970088
|
0.00002
|
NM_015164.4(PLEKHM2):c.981C>T (p.Ser327=)
|
rs751424826
|
0.00002
|
NM_001079802.2(FKTN):c.*324G>C
|
rs536822992
|
0.00001
|
NM_015164.4(PLEKHM2):c.1005A>G (p.Pro335=)
|
rs1238231841
|
0.00001
|
NM_015164.4(PLEKHM2):c.1091C>T (p.Ser364Leu)
|
rs375548142
|
0.00001
|
NM_015164.4(PLEKHM2):c.1117C>G (p.Gln373Glu)
|
rs778344771
|
0.00001
|
NM_015164.4(PLEKHM2):c.1118A>G (p.Gln373Arg)
|
rs1263111211
|
0.00001
|
NM_015164.4(PLEKHM2):c.1148C>T (p.Thr383Met)
|
rs749482191
|
0.00001
|
NM_015164.4(PLEKHM2):c.1159G>A (p.Glu387Lys)
|
rs376491799
|
0.00001
|
NM_015164.4(PLEKHM2):c.1172C>T (p.Pro391Leu)
|
rs764775012
|
0.00001
|
NM_015164.4(PLEKHM2):c.1285C>T (p.Arg429Cys)
|
rs750912985
|
0.00001
|
NM_015164.4(PLEKHM2):c.1312C>T (p.Arg438Trp)
|
rs772221050
|
0.00001
|
NM_015164.4(PLEKHM2):c.1320C>T (p.Gly440=)
|
rs776655442
|
0.00001
|
NM_015164.4(PLEKHM2):c.1325C>G (p.Pro442Arg)
|
rs762656151
|
0.00001
|
NM_015164.4(PLEKHM2):c.1330G>T (p.Asp444Tyr)
|
rs773770696
|
0.00001
|
NM_015164.4(PLEKHM2):c.1350G>A (p.Pro450=)
|
rs777978801
|
0.00001
|
NM_015164.4(PLEKHM2):c.1379C>T (p.Ala460Val)
|
rs1242744565
|
0.00001
|
NM_015164.4(PLEKHM2):c.1410G>A (p.Glu470=)
|
rs1320576929
|
0.00001
|
NM_015164.4(PLEKHM2):c.1538C>T (p.Thr513Met)
|
rs373517149
|
0.00001
|
NM_015164.4(PLEKHM2):c.1661A>G (p.Lys554Arg)
|
rs753778128
|
0.00001
|
NM_015164.4(PLEKHM2):c.1663C>T (p.Arg555Ter)
|
rs1377708613
|
0.00001
|
NM_015164.4(PLEKHM2):c.1671G>T (p.Gln557His)
|
rs373878060
|
0.00001
|
NM_015164.4(PLEKHM2):c.1760+10C>T
|
rs1281223984
|
0.00001
|
NM_015164.4(PLEKHM2):c.1831-10C>T
|
rs750051545
|
0.00001
|
NM_015164.4(PLEKHM2):c.1831-6C>T
|
rs755595683
|
0.00001
|
NM_015164.4(PLEKHM2):c.1833G>T (p.Met611Ile)
|
rs758944920
|
0.00001
|
NM_015164.4(PLEKHM2):c.1837C>T (p.Arg613Trp)
|
rs778088672
|
0.00001
|
NM_015164.4(PLEKHM2):c.1849G>A (p.Gly617Arg)
|
rs746131818
|
0.00001
|
NM_015164.4(PLEKHM2):c.1881C>T (p.Tyr627=)
|
rs750079183
|
0.00001
|
NM_015164.4(PLEKHM2):c.1882G>A (p.Val628Met)
|
rs199779846
|
0.00001
|
NM_015164.4(PLEKHM2):c.1884G>T (p.Val628=)
|
rs376073436
|
0.00001
|
NM_015164.4(PLEKHM2):c.189C>A (p.Gly63=)
|
rs755254385
|
0.00001
|
NM_015164.4(PLEKHM2):c.1915C>T (p.Arg639Trp)
|
rs1352162718
|
0.00001
|
NM_015164.4(PLEKHM2):c.1921+15C>T
|
rs768864522
|
0.00001
|
NM_015164.4(PLEKHM2):c.1921+6C>T
|
rs1451525606
|
0.00001
|
NM_015164.4(PLEKHM2):c.1922-3C>T
|
rs1329030614
|
0.00001
|
NM_015164.4(PLEKHM2):c.1985C>T (p.Ser662Leu)
|
rs778617942
|
0.00001
|
NM_015164.4(PLEKHM2):c.2032A>C (p.Arg678=)
|
rs577044690
|
0.00001
|
NM_015164.4(PLEKHM2):c.2045T>C (p.Leu682Pro)
|
rs2068105572
|
0.00001
|
NM_015164.4(PLEKHM2):c.205G>A (p.Val69Met)
|
rs765299409
|
0.00001
|
NM_015164.4(PLEKHM2):c.2066C>T (p.Ala689Val)
|
rs545971251
|
0.00001
|
NM_015164.4(PLEKHM2):c.2075+20C>T
|
rs1469594572
|
0.00001
|
NM_015164.4(PLEKHM2):c.2076-6A>G
|
rs571394304
|
0.00001
|
NM_015164.4(PLEKHM2):c.2135C>T (p.Pro712Leu)
|
rs771712474
|
0.00001
|
NM_015164.4(PLEKHM2):c.2190C>T (p.Ala730=)
|
rs1052497156
|
0.00001
|
NM_015164.4(PLEKHM2):c.2209-13G>A
|
rs753725638
|
0.00001
|
NM_015164.4(PLEKHM2):c.2227C>T (p.Arg743Cys)
|
rs769063819
|
0.00001
|
NM_015164.4(PLEKHM2):c.2256C>T (p.Asp752=)
|
rs1474166298
|
0.00001
|
NM_015164.4(PLEKHM2):c.2267A>T (p.Glu756Val)
|
rs2068127720
|
0.00001
|
NM_015164.4(PLEKHM2):c.2282C>T (p.Thr761Met)
|
rs570032250
|
0.00001
|
NM_015164.4(PLEKHM2):c.2310C>T (p.Gly770=)
|
rs971030462
|
0.00001
|
NM_015164.4(PLEKHM2):c.2370A>G (p.Glu790=)
|
rs1449876649
|
0.00001
|
NM_015164.4(PLEKHM2):c.2428C>T (p.Arg810Cys)
|
rs761692683
|
0.00001
|
NM_015164.4(PLEKHM2):c.2458A>C (p.Asn820His)
|
rs534045338
|
0.00001
|
NM_015164.4(PLEKHM2):c.2461A>G (p.Met821Val)
|
rs1453093500
|
0.00001
|
NM_015164.4(PLEKHM2):c.2466-9C>G
|
rs764517535
|
0.00001
|
NM_015164.4(PLEKHM2):c.2483G>A (p.Gly828Asp)
|
rs750577757
|
0.00001
|
NM_015164.4(PLEKHM2):c.2510G>A (p.Arg837Gln)
|
rs1325122392
|
0.00001
|
NM_015164.4(PLEKHM2):c.2532T>C (p.Ile844=)
|
rs776268014
|
0.00001
|
NM_015164.4(PLEKHM2):c.2572G>A (p.Glu858Lys)
|
rs555840819
|
0.00001
|
NM_015164.4(PLEKHM2):c.2578G>A (p.Glu860Lys)
|
rs770725489
|
0.00001
|
NM_015164.4(PLEKHM2):c.2587G>A (p.Glu863Lys)
|
rs1412158115
|
0.00001
|
NM_015164.4(PLEKHM2):c.2625+10G>A
|
rs766912438
|
0.00001
|
NM_015164.4(PLEKHM2):c.2626-8G>A
|
rs745495220
|
0.00001
|
NM_015164.4(PLEKHM2):c.2626-9C>T
|
rs781002125
|
0.00001
|
NM_015164.4(PLEKHM2):c.2626G>T (p.Val876Phe)
|
rs1464968857
|
0.00001
|
NM_015164.4(PLEKHM2):c.2679C>T (p.Leu893=)
|
rs1465061757
|
0.00001
|
NM_015164.4(PLEKHM2):c.2699C>T (p.Thr900Met)
|
rs765432354
|
0.00001
|
NM_015164.4(PLEKHM2):c.2713T>C (p.Cys905Arg)
|
rs372585673
|
0.00001
|
NM_015164.4(PLEKHM2):c.2724C>T (p.Ser908=)
|
rs1302127891
|
0.00001
|
NM_015164.4(PLEKHM2):c.2731C>T (p.Arg911Cys)
|
rs1316562875
|
0.00001
|
NM_015164.4(PLEKHM2):c.274C>T (p.Arg92Cys)
|
rs886757579
|
0.00001
|
NM_015164.4(PLEKHM2):c.2783C>T (p.Pro928Leu)
|
rs1290176281
|
0.00001
|
NM_015164.4(PLEKHM2):c.2799C>T (p.Cys933=)
|
rs552345005
|
0.00001
|
NM_015164.4(PLEKHM2):c.2805+13T>C
|
rs1557664395
|
0.00001
|
NM_015164.4(PLEKHM2):c.2806-2A>G
|
rs1447936371
|
0.00001
|
NM_015164.4(PLEKHM2):c.282T>A (p.Arg94=)
|
rs1029663243
|
0.00001
|
NM_015164.4(PLEKHM2):c.2833C>T (p.Leu945Phe)
|
rs535480952
|
0.00001
|
NM_015164.4(PLEKHM2):c.2838G>A (p.Pro946=)
|
rs188910942
|
0.00001
|
NM_015164.4(PLEKHM2):c.2920C>A (p.Gln974Lys)
|
rs756525436
|
0.00001
|
NM_015164.4(PLEKHM2):c.2922+13C>T
|
rs1327536351
|
0.00001
|
NM_015164.4(PLEKHM2):c.2923-12G>A
|
rs1230599995
|
0.00001
|
NM_015164.4(PLEKHM2):c.2923-9C>T
|
rs770736460
|
0.00001
|
NM_015164.4(PLEKHM2):c.2974G>A (p.Glu992Lys)
|
rs369250576
|
0.00001
|
NM_015164.4(PLEKHM2):c.2980G>T (p.Ala994Ser)
|
rs2068185103
|
0.00001
|
NM_015164.4(PLEKHM2):c.3000C>T (p.Ser1000=)
|
rs763585907
|
0.00001
|
NM_015164.4(PLEKHM2):c.3001G>A (p.Ala1001Thr)
|
rs1448543905
|
0.00001
|
NM_015164.4(PLEKHM2):c.3010C>T (p.Arg1004Trp)
|
rs767576522
|
0.00001
|
NM_015164.4(PLEKHM2):c.3043C>T (p.Arg1015Ter)
|
rs61738980
|
0.00001
|
NM_015164.4(PLEKHM2):c.373G>A (p.Val125Ile)
|
rs764064755
|
0.00001
|
NM_015164.4(PLEKHM2):c.423C>T (p.Thr141=)
|
rs947019197
|
0.00001
|
NM_015164.4(PLEKHM2):c.460G>T (p.Asp154Tyr)
|
rs939394495
|
0.00001
|
NM_015164.4(PLEKHM2):c.465+10C>T
|
rs1290066435
|
0.00001
|
NM_015164.4(PLEKHM2):c.466-10C>G
|
rs961545436
|
0.00001
|
NM_015164.4(PLEKHM2):c.590T>G (p.Phe197Cys)
|
rs1196866843
|
0.00001
|
NM_015164.4(PLEKHM2):c.61-18T>C
|
rs982890901
|
0.00001
|
NM_015164.4(PLEKHM2):c.642A>G (p.Pro214=)
|
rs754313190
|
0.00001
|
NM_015164.4(PLEKHM2):c.653-5T>C
|
rs773922799
|
0.00001
|
NM_015164.4(PLEKHM2):c.686C>T (p.Pro229Leu)
|
rs1337397914
|
0.00001
|
NM_015164.4(PLEKHM2):c.712G>A (p.Asp238Asn)
|
rs2067996105
|
0.00001
|
NM_015164.4(PLEKHM2):c.714T>C (p.Asp238=)
|
rs1484233281
|
0.00001
|
NM_015164.4(PLEKHM2):c.754G>A (p.Ala252Thr)
|
rs551226298
|
0.00001
|
NM_015164.4(PLEKHM2):c.759C>T (p.Ser253=)
|
rs1260718176
|
0.00001
|
NM_015164.4(PLEKHM2):c.803G>A (p.Arg268His)
|
rs540176774
|
0.00001
|
NM_015164.4(PLEKHM2):c.839T>C (p.Val280Ala)
|
rs1367075387
|
0.00001
|
NM_015164.4(PLEKHM2):c.840G>A (p.Val280=)
|
rs916422947
|
0.00001
|
NM_015164.4(PLEKHM2):c.890A>C (p.Glu297Ala)
|
rs750549299
|
0.00001
|
NM_015164.4(PLEKHM2):c.892G>A (p.Ala298Thr)
|
rs1161474873
|
0.00001
|
NM_015164.4(PLEKHM2):c.8C>T (p.Pro3Leu)
|
rs866837651
|
0.00001
|
NM_015164.4(PLEKHM2):c.911C>T (p.Pro304Leu)
|
rs1053888190
|
0.00001
|
NM_015164.4(PLEKHM2):c.914A>T (p.Asp305Val)
|
rs758071508
|
0.00001
|
NM_015164.4(PLEKHM2):c.931G>A (p.Glu311Lys)
|
rs772148348
|
0.00001
|
NM_015164.4(PLEKHM2):c.941+6C>T
|
rs1170781688
|
0.00001
|
NC_000001.10:g.(?_16011044)_(16060439_?)dup
|
|
|
NC_000001.10:g.(?_16042712)_(16060429_?)dup
|
|
|
NC_000001.10:g.(?_16042722)_(16060439_?)dup
|
|
|
NC_000001.10:g.(?_16057007)_(16060429_?)dup
|
|
|
NC_000001.10:g.(?_16058407)_(16059004_?)del
|
|
|
NC_000001.11:g.(?_15731879)_(15732738_?)del
|
|
|
NM_000363.5(TNNI3):c.-133G>T
|
rs886054636
|
|
NM_000363.5(TNNI3):c.12-7del
|
rs370714315
|
|
NM_000363.5(TNNI3):c.157C>T (p.Leu53=)
|
rs763981651
|
|
NM_001079802.2(FKTN):c.*3432dup
|
rs879020291
|
|
NM_001079802.2(FKTN):c.*4238del
|
rs776272545
|
|
NM_001079802.2(FKTN):c.*42del
|
rs749100291
|
|
NM_001079802.2(FKTN):c.*5303dup
|
rs879263714
|
|
NM_001079802.2(FKTN):c.-90del
|
rs727502845
|
|
NM_001256715.2(DNAAF3):c.1093= (p.Asn365=)
|
rs890872
|
|
NM_015164.4(PLEKHM2):c.1017C>G (p.Ala339=)
|
|
|
NM_015164.4(PLEKHM2):c.101C>T (p.Ala34Val)
|
|
|
NM_015164.4(PLEKHM2):c.1021A>C (p.Ser341Arg)
|
rs886205223
|
|
NM_015164.4(PLEKHM2):c.1036G>T (p.Ala346Ser)
|
|
|
NM_015164.4(PLEKHM2):c.1047G>T (p.Gly349=)
|
rs1295574333
|
|
NM_015164.4(PLEKHM2):c.1048G>T (p.Asp350Tyr)
|
|
|
NM_015164.4(PLEKHM2):c.1051G>A (p.Gly351Ser)
|
rs759813805
|
|
NM_015164.4(PLEKHM2):c.1052_1097del (p.Gly351fs)
|
rs2068073260
|
|
NM_015164.4(PLEKHM2):c.1061G>A (p.Arg354His)
|
|
|
NM_015164.4(PLEKHM2):c.1061G>C (p.Arg354Pro)
|
rs751121316
|
|
NM_015164.4(PLEKHM2):c.1061G>T (p.Arg354Leu)
|
rs751121316
|
|
NM_015164.4(PLEKHM2):c.1061_1063dup (p.Arg354_Asn355insSer)
|
rs2068073520
|
|
NM_015164.4(PLEKHM2):c.1065C>A (p.Asn355Lys)
|
rs377142193
|
|
NM_015164.4(PLEKHM2):c.1065C>G (p.Asn355Lys)
|
rs377142193
|
|
NM_015164.4(PLEKHM2):c.1066G>A (p.Gly356Ser)
|
|
|
NM_015164.4(PLEKHM2):c.106C>T (p.Arg36Trp)
|
|
|
NM_015164.4(PLEKHM2):c.1075A>G (p.Ser359Gly)
|
|
|
NM_015164.4(PLEKHM2):c.1078C>T (p.Leu360Phe)
|
|
|
NM_015164.4(PLEKHM2):c.1084C>T (p.Arg362Trp)
|
rs61738983
|
|
NM_015164.4(PLEKHM2):c.1085G>T (p.Arg362Leu)
|
|
|
NM_015164.4(PLEKHM2):c.1085_1105del (p.Arg362_Met368del)
|
|
|
NM_015164.4(PLEKHM2):c.1090_1098del (p.Ser364_Asp366del)
|
|
|
NM_015164.4(PLEKHM2):c.1095_1112dup (p.Ser371_Pro372insAspThrMetLeuAlaSer)
|
|
|
NM_015164.4(PLEKHM2):c.1100C>G (p.Thr367Ser)
|
rs774282688
|
|
NM_015164.4(PLEKHM2):c.1104G>A (p.Met368Ile)
|
|
|
NM_015164.4(PLEKHM2):c.1112C>A (p.Ser371Tyr)
|
|
|
NM_015164.4(PLEKHM2):c.1115C>G (p.Pro372Arg)
|
|
|
NM_015164.4(PLEKHM2):c.1117C>A (p.Gln373Lys)
|
|
|
NM_015164.4(PLEKHM2):c.111C>G (p.Asn37Lys)
|
rs1641444723
|
|
NM_015164.4(PLEKHM2):c.1136C>T (p.Pro379Leu)
|
|
|
NM_015164.4(PLEKHM2):c.1137G>A (p.Pro379=)
|
rs2148371752
|
|
NM_015164.4(PLEKHM2):c.1151A>G (p.Glu384Gly)
|
|
|
NM_015164.4(PLEKHM2):c.1159G>C (p.Glu387Gln)
|
rs376491799
|
|
NM_015164.4(PLEKHM2):c.1167C>T (p.Ser389=)
|
rs372659037
|
|
NM_015164.4(PLEKHM2):c.1168G>A (p.Glu390Lys)
|
|
|
NM_015164.4(PLEKHM2):c.1173G>A (p.Pro391=)
|
rs376636032
|
|
NM_015164.4(PLEKHM2):c.1176C>T (p.Gly392=)
|
|
|
NM_015164.4(PLEKHM2):c.1185C>T (p.Ile395=)
|
rs1198794133
|
|
NM_015164.4(PLEKHM2):c.1187del (p.Pro396fs)
|
|
|
NM_015164.4(PLEKHM2):c.1206C>A (p.Ser402=)
|
|
|
NM_015164.4(PLEKHM2):c.1215C>T (p.Arg405=)
|
|
|
NM_015164.4(PLEKHM2):c.1218G>A (p.Leu406=)
|
|
|
NM_015164.4(PLEKHM2):c.1254C>A (p.Asn418Lys)
|
|
|
NM_015164.4(PLEKHM2):c.1256G>A (p.Gly419Glu)
|
|
|
NM_015164.4(PLEKHM2):c.1262T>C (p.Leu421Pro)
|
|
|
NM_015164.4(PLEKHM2):c.1267C>T (p.Pro423Ser)
|
|
|
NM_015164.4(PLEKHM2):c.126A>C (p.Leu42=)
|
rs201343557
|
|
NM_015164.4(PLEKHM2):c.1284C>T (p.Ser428=)
|
rs2148372087
|
|
NM_015164.4(PLEKHM2):c.1296C>T (p.Pro432=)
|
rs1311897357
|
|
NM_015164.4(PLEKHM2):c.1301A>T (p.Asp434Val)
|
|
|
NM_015164.4(PLEKHM2):c.1303C>A (p.Gln435Lys)
|
rs748386047
|
|
NM_015164.4(PLEKHM2):c.1314G>T (p.Arg438=)
|
|
|
NM_015164.4(PLEKHM2):c.1317_1318delinsAT (p.Gly440Cys)
|
|
|
NM_015164.4(PLEKHM2):c.1322C>G (p.Ser441Cys)
|
rs373711687
|
|
NM_015164.4(PLEKHM2):c.1322C>T (p.Ser441Phe)
|
rs373711687
|
|
NM_015164.4(PLEKHM2):c.1326C>T (p.Pro442=)
|
|
|
NM_015164.4(PLEKHM2):c.1327G>A (p.Gly443Arg)
|
|
|
NM_015164.4(PLEKHM2):c.1337C>T (p.Pro446Leu)
|
|
|
NM_015164.4(PLEKHM2):c.133C>T (p.Leu45=)
|
|
|
NM_015164.4(PLEKHM2):c.1344G>T (p.Arg448Ser)
|
|
|
NM_015164.4(PLEKHM2):c.1347G>A (p.Pro449=)
|
rs1257493374
|
|
NM_015164.4(PLEKHM2):c.134T>C (p.Leu45Pro)
|
|
|
NM_015164.4(PLEKHM2):c.1356C>T (p.Cys452=)
|
|
|
NM_015164.4(PLEKHM2):c.1384A>G (p.Met462Val)
|
|
|
NM_015164.4(PLEKHM2):c.1384A>T (p.Met462Leu)
|
|
|
NM_015164.4(PLEKHM2):c.1396C>T (p.Arg466Cys)
|
|
|
NM_015164.4(PLEKHM2):c.139G>A (p.Glu47Lys)
|
rs2148357243
|
|
NM_015164.4(PLEKHM2):c.1405G>A (p.Val469Ile)
|
rs748904369
|
|
NM_015164.4(PLEKHM2):c.1407C>T (p.Val469=)
|
|
|
NM_015164.4(PLEKHM2):c.1408G>A (p.Glu470Lys)
|
|
|
NM_015164.4(PLEKHM2):c.1411A>G (p.Ser471Gly)
|
|
|
NM_015164.4(PLEKHM2):c.1418_1419delinsAT (p.Ser473Asn)
|
rs1571067317
|
|
NM_015164.4(PLEKHM2):c.142C>A (p.His48Asn)
|
|
|
NM_015164.4(PLEKHM2):c.1469C>A (p.Pro490Gln)
|
rs368020288
|
|
NM_015164.4(PLEKHM2):c.1470G>T (p.Pro490=)
|
|
|
NM_015164.4(PLEKHM2):c.14A>T (p.Glu5Val)
|
rs769845310
|
|
NM_015164.4(PLEKHM2):c.1506AGA[2] (p.Glu505del)
|
rs1345388703
|
|
NM_015164.4(PLEKHM2):c.1515G>A (p.Glu505=)
|
|
|
NM_015164.4(PLEKHM2):c.1517G>A (p.Gly506Glu)
|
|
|
NM_015164.4(PLEKHM2):c.1538C>A (p.Thr513Lys)
|
|
|
NM_015164.4(PLEKHM2):c.1538C>G (p.Thr513Arg)
|
|
|
NM_015164.4(PLEKHM2):c.1539G>A (p.Thr513=)
|
|
|
NM_015164.4(PLEKHM2):c.1548C>T (p.Pro516=)
|
rs1410933413
|
|
NM_015164.4(PLEKHM2):c.1556A>T (p.Asp519Val)
|
|
|
NM_015164.4(PLEKHM2):c.1577_2399+159del
|
|
|
NM_015164.4(PLEKHM2):c.1593G>C (p.Leu531=)
|
|
|
NM_015164.4(PLEKHM2):c.159G>A (p.Leu53=)
|
rs777517195
|
|
NM_015164.4(PLEKHM2):c.1623G>T (p.Glu541Asp)
|
|
|
NM_015164.4(PLEKHM2):c.1627G>C (p.Glu543Gln)
|
rs1557660279
|
|
NM_015164.4(PLEKHM2):c.1629G>A (p.Glu543=)
|
|
|
NM_015164.4(PLEKHM2):c.162G>C (p.Leu54=)
|
rs199666070
|
|
NM_015164.4(PLEKHM2):c.1640A>G (p.Gln547Arg)
|
rs762166145
|
|
NM_015164.4(PLEKHM2):c.1664G>A (p.Arg555Gln)
|
rs754709565
|
|
NM_015164.4(PLEKHM2):c.167+19C>G
|
|
|
NM_015164.4(PLEKHM2):c.1671G>A (p.Gln557=)
|
|
|
NM_015164.4(PLEKHM2):c.1679C>T (p.Pro560Leu)
|
|
|
NM_015164.4(PLEKHM2):c.168-20C>G
|
|
|
NM_015164.4(PLEKHM2):c.1705G>A (p.Gly569Arg)
|
rs2148373073
|
|
NM_015164.4(PLEKHM2):c.1706G>C (p.Gly569Ala)
|
rs1557660418
|
|
NM_015164.4(PLEKHM2):c.1739T>C (p.Met580Thr)
|
|
|
NM_015164.4(PLEKHM2):c.1741G>A (p.Val581Ile)
|
|
|
NM_015164.4(PLEKHM2):c.1760+12_1760+13del
|
|
|
NM_015164.4(PLEKHM2):c.1760+18C>T
|
|
|
NM_015164.4(PLEKHM2):c.1760+1G>C
|
rs112106313
|
|
NM_015164.4(PLEKHM2):c.1760+20G>A
|
|
|
NM_015164.4(PLEKHM2):c.176A>T (p.Asp59Val)
|
rs2148357683
|
|
NM_015164.4(PLEKHM2):c.1775A>G (p.His592Arg)
|
|
|
NM_015164.4(PLEKHM2):c.177C>A (p.Asp59Glu)
|
|
|
NM_015164.4(PLEKHM2):c.1791G>A (p.Met597Ile)
|
|
|
NM_015164.4(PLEKHM2):c.1798G>A (p.Val600Met)
|
|
|
NM_015164.4(PLEKHM2):c.1805G>A (p.Arg602Gln)
|
|
|
NM_015164.4(PLEKHM2):c.1830+17C>T
|
|
|
NM_015164.4(PLEKHM2):c.1830+8C>T
|
|
|
NM_015164.4(PLEKHM2):c.1831-3C>T
|
rs562966267
|
|
NM_015164.4(PLEKHM2):c.1837C>G (p.Arg613Gly)
|
rs778088672
|
|
NM_015164.4(PLEKHM2):c.1838G>A (p.Arg613Gln)
|
|
|
NM_015164.4(PLEKHM2):c.1845C>T (p.Ser615=)
|
|
|
NM_015164.4(PLEKHM2):c.1847C>T (p.Thr616Ile)
|
rs1260363265
|
|
NM_015164.4(PLEKHM2):c.1849G>T (p.Gly617Trp)
|
|
|
NM_015164.4(PLEKHM2):c.1855A>G (p.Met619Val)
|
|
|
NM_015164.4(PLEKHM2):c.1860G>A (p.Glu620=)
|
|
|
NM_015164.4(PLEKHM2):c.1876C>G (p.Leu626Val)
|
|
|
NM_015164.4(PLEKHM2):c.1878G>A (p.Leu626=)
|
|
|
NM_015164.4(PLEKHM2):c.1885C>G (p.Leu629Val)
|
|
|
NM_015164.4(PLEKHM2):c.1901A>G (p.Tyr634Cys)
|
|
|
NM_015164.4(PLEKHM2):c.1908C>T (p.Tyr636=)
|
|
|
NM_015164.4(PLEKHM2):c.1916G>A (p.Arg639Gln)
|
|
|
NM_015164.4(PLEKHM2):c.1921+16G>A
|
|
|
NM_015164.4(PLEKHM2):c.1922-14G>A
|
|
|
NM_015164.4(PLEKHM2):c.1942C>G (p.Leu648Val)
|
|
|
NM_015164.4(PLEKHM2):c.1975G>T (p.Asp659Tyr)
|
rs2148374720
|
|
NM_015164.4(PLEKHM2):c.1980T>C (p.Tyr660=)
|
|
|
NM_015164.4(PLEKHM2):c.1986+10G>C
|
|
|
NM_015164.4(PLEKHM2):c.1986+15C>G
|
|
|
NM_015164.4(PLEKHM2):c.1986+15C>T
|
|
|
NM_015164.4(PLEKHM2):c.1986G>A (p.Ser662=)
|
rs750948403
|
|
NM_015164.4(PLEKHM2):c.1999C>A (p.Gln667Lys)
|
|
|
NM_015164.4(PLEKHM2):c.2006C>T (p.Thr669Met)
|
|
|
NM_015164.4(PLEKHM2):c.2007G>A (p.Thr669=)
|
rs1281335178
|
|
NM_015164.4(PLEKHM2):c.2023A>G (p.Thr675Ala)
|
rs2148375396
|
|
NM_015164.4(PLEKHM2):c.2029C>T (p.Arg677Cys)
|
|
|
NM_015164.4(PLEKHM2):c.2031C>A (p.Arg677=)
|
rs2148375415
|
|
NM_015164.4(PLEKHM2):c.2071G>T (p.Ala691Ser)
|
|
|
NM_015164.4(PLEKHM2):c.2075+15C>T
|
|
|
NM_015164.4(PLEKHM2):c.2076-14C>T
|
|
|
NM_015164.4(PLEKHM2):c.2076-16C>T
|
|
|
NM_015164.4(PLEKHM2):c.2102C>T (p.Ala701Val)
|
rs2068114434
|
|
NM_015164.4(PLEKHM2):c.2109del (p.Gly705fs)
|
rs1553161364
|
|
NM_015164.4(PLEKHM2):c.2126C>T (p.Pro709Leu)
|
rs747656902
|
|
NM_015164.4(PLEKHM2):c.2133C>T (p.Tyr711=)
|
|
|
NM_015164.4(PLEKHM2):c.2139C>T (p.Ser713=)
|
rs2148376532
|
|
NM_015164.4(PLEKHM2):c.2142C>T (p.Ile714=)
|
|
|
NM_015164.4(PLEKHM2):c.2144T>C (p.Leu715Pro)
|
rs1557661974
|
|
NM_015164.4(PLEKHM2):c.2151T>G (p.Asp717Glu)
|
rs2068115318
|
|
NM_015164.4(PLEKHM2):c.2158A>G (p.Met720Val)
|
|
|
NM_015164.4(PLEKHM2):c.217C>T (p.Arg73Trp)
|
rs778698313
|
|
NM_015164.4(PLEKHM2):c.218G>A (p.Arg73Gln)
|
|
|
NM_015164.4(PLEKHM2):c.2193A>C (p.Gln731His)
|
|
|
NM_015164.4(PLEKHM2):c.2198C>T (p.Ser733Leu)
|
|
|
NM_015164.4(PLEKHM2):c.219_220insCTCTCCGA (p.Arg74fs)
|
|
|
NM_015164.4(PLEKHM2):c.2208+11G>C
|
|
|
NM_015164.4(PLEKHM2):c.2208+9C>G
|
|
|
NM_015164.4(PLEKHM2):c.2230T>G (p.Phe744Val)
|
|
|
NM_015164.4(PLEKHM2):c.2238C>T (p.Gly746=)
|
|
|
NM_015164.4(PLEKHM2):c.2239C>T (p.Leu747Phe)
|
rs2068127084
|
|
NM_015164.4(PLEKHM2):c.2247C>T (p.His749=)
|
|
|
NM_015164.4(PLEKHM2):c.2255A>G (p.Asp752Gly)
|
rs2148378112
|
|
NM_015164.4(PLEKHM2):c.2289C>A (p.Cys763Ter)
|
rs762871052
|
|
NM_015164.4(PLEKHM2):c.228C>T (p.Ala76=)
|
rs2148357749
|
|
NM_015164.4(PLEKHM2):c.2293T>C (p.Cys765Arg)
|
|
|
NM_015164.4(PLEKHM2):c.22G>A (p.Asp8Asn)
|
|
|
NM_015164.4(PLEKHM2):c.2302C>A (p.Pro768Thr)
|
rs754341890
|
|
NM_015164.4(PLEKHM2):c.2302C>T (p.Pro768Ser)
|
|
|
NM_015164.4(PLEKHM2):c.2303C>T (p.Pro768Leu)
|
|
|
NM_015164.4(PLEKHM2):c.2316C>T (p.Ile772=)
|
rs772431603
|
|
NM_015164.4(PLEKHM2):c.2320A>G (p.Lys774Glu)
|
rs1553161495
|
|
NM_015164.4(PLEKHM2):c.2335C>T (p.His779Tyr)
|
|
|
NM_015164.4(PLEKHM2):c.2381C>T (p.Thr794Met)
|
|
|
NM_015164.4(PLEKHM2):c.2382G>A (p.Thr794=)
|
rs1455349103
|
|
NM_015164.4(PLEKHM2):c.2388C>T (p.Phe796=)
|
|
|
NM_015164.4(PLEKHM2):c.2399+7G>A
|
|
|
NM_015164.4(PLEKHM2):c.2400-10_2400-9delinsAA
|
|
|
NM_015164.4(PLEKHM2):c.2400-12G>T
|
|
|
NM_015164.4(PLEKHM2):c.2400-17G>T
|
|
|
NM_015164.4(PLEKHM2):c.2400-20C>T
|
|
|
NM_015164.4(PLEKHM2):c.2400-6del
|
rs770328618
|
|
NM_015164.4(PLEKHM2):c.2402A>G (p.Asn801Ser)
|
|
|
NM_015164.4(PLEKHM2):c.2403C>T (p.Asn801=)
|
rs1232641899
|
|
NM_015164.4(PLEKHM2):c.240C>A (p.Ile80=)
|
|
|
NM_015164.4(PLEKHM2):c.240C>T (p.Ile80=)
|
|
|
NM_015164.4(PLEKHM2):c.241G>C (p.Glu81Gln)
|
|
|
NM_015164.4(PLEKHM2):c.2423C>T (p.Pro808Leu)
|
|
|
NM_015164.4(PLEKHM2):c.2427C>T (p.Asp809=)
|
|
|
NM_015164.4(PLEKHM2):c.2429G>A (p.Arg810His)
|
|
|
NM_015164.4(PLEKHM2):c.2443C>T (p.Pro815Ser)
|
|
|
NM_015164.4(PLEKHM2):c.2464G>A (p.Gly822Arg)
|
|
|
NM_015164.4(PLEKHM2):c.2465+11C>T
|
|
|
NM_015164.4(PLEKHM2):c.2465+12G>C
|
rs370100069
|
|
NM_015164.4(PLEKHM2):c.2465+12G>T
|
|
|
NM_015164.4(PLEKHM2):c.2465+20C>T
|
|
|
NM_015164.4(PLEKHM2):c.2465+9C>T
|
rs375736292
|
|
NM_015164.4(PLEKHM2):c.2466-14C>G
|
|
|
NM_015164.4(PLEKHM2):c.2466-14C>T
|
|
|
NM_015164.4(PLEKHM2):c.2466-19C>T
|
rs768958069
|
|
NM_015164.4(PLEKHM2):c.2466G>C (p.Gly822=)
|
rs201370265
|
|
NM_015164.4(PLEKHM2):c.2466G>T (p.Gly822=)
|
rs201370265
|
|
NM_015164.4(PLEKHM2):c.2467G>C (p.Gly823Arg)
|
|
|
NM_015164.4(PLEKHM2):c.2474A>C (p.Gln825Pro)
|
rs1557663567
|
|
NM_015164.4(PLEKHM2):c.2475G>C (p.Gln825His)
|
|
|
NM_015164.4(PLEKHM2):c.2489G>A (p.Arg830Gln)
|
|
|
NM_015164.4(PLEKHM2):c.248T>C (p.Leu83Pro)
|
rs2148357780
|
|
NM_015164.4(PLEKHM2):c.2499C>A (p.Asn833Lys)
|
|
|
NM_015164.4(PLEKHM2):c.2504C>T (p.Thr835Met)
|
|
|
NM_015164.4(PLEKHM2):c.2505G>A (p.Thr835=)
|
rs771760241
|
|
NM_015164.4(PLEKHM2):c.2514C>T (p.Pro838=)
|
|
|
NM_015164.4(PLEKHM2):c.2539G>A (p.Asp847Asn)
|
rs774711874
|
|
NM_015164.4(PLEKHM2):c.2539G>C (p.Asp847His)
|
|
|
NM_015164.4(PLEKHM2):c.2541C>G (p.Asp847Glu)
|
rs1208216470
|
|
NM_015164.4(PLEKHM2):c.2543G>A (p.Arg848Gln)
|
rs376748082
|
|
NM_015164.4(PLEKHM2):c.2543G>T (p.Arg848Leu)
|
rs376748082
|
|
NM_015164.4(PLEKHM2):c.2557C>T (p.Leu853=)
|
|
|
NM_015164.4(PLEKHM2):c.2565C>G (p.Ala855=)
|
|
|
NM_015164.4(PLEKHM2):c.2565C>T (p.Ala855=)
|
rs368018228
|
|
NM_015164.4(PLEKHM2):c.2573A>C (p.Glu858Ala)
|
|
|
NM_015164.4(PLEKHM2):c.2576C>G (p.Ala859Gly)
|
rs1390978555
|
|
NM_015164.4(PLEKHM2):c.2577C>G (p.Ala859=)
|
rs369860859
|
|
NM_015164.4(PLEKHM2):c.2577C>T (p.Ala859=)
|
rs369860859
|
|
NM_015164.4(PLEKHM2):c.258G>A (p.Val86=)
|
rs2148357794
|
|
NM_015164.4(PLEKHM2):c.2593A>T (p.Met865Leu)
|
|
|
NM_015164.4(PLEKHM2):c.2594T>G (p.Met865Arg)
|
|
|
NM_015164.4(PLEKHM2):c.25C>G (p.Arg9Gly)
|
|
|
NM_015164.4(PLEKHM2):c.2614G>T (p.Val872Leu)
|
rs868336310
|
|
NM_015164.4(PLEKHM2):c.2616G>A (p.Val872=)
|
rs2148380688
|
|
NM_015164.4(PLEKHM2):c.2620A>G (p.Lys874Glu)
|
rs970061065
|
|
NM_015164.4(PLEKHM2):c.2639G>A (p.Gly880Asp)
|
|
|
NM_015164.4(PLEKHM2):c.2677C>A (p.Leu893Ile)
|
rs1249701724
|
|
NM_015164.4(PLEKHM2):c.2679C>A (p.Leu893=)
|
rs1465061757
|
|
NM_015164.4(PLEKHM2):c.268C>G (p.Leu90Val)
|
|
|
NM_015164.4(PLEKHM2):c.268C>T (p.Leu90=)
|
rs2148357807
|
|
NM_015164.4(PLEKHM2):c.2713T>G (p.Cys905Gly)
|
rs372585673
|
|
NM_015164.4(PLEKHM2):c.2721C>G (p.Thr907=)
|
rs1365528829
|
|
NM_015164.4(PLEKHM2):c.2742C>A (p.Gly914=)
|
|
|
NM_015164.4(PLEKHM2):c.2747C>T (p.Ala916Val)
|
rs536599433
|
|
NM_015164.4(PLEKHM2):c.2756G>A (p.Gly919Asp)
|
|
|
NM_015164.4(PLEKHM2):c.2756del (p.Gly919fs)
|
rs774574426
|
|
NM_015164.4(PLEKHM2):c.275G>A (p.Arg92His)
|
|
|
NM_015164.4(PLEKHM2):c.2769C>T (p.Ala923=)
|
|
|
NM_015164.4(PLEKHM2):c.2784G>A (p.Pro928=)
|
|
|
NM_015164.4(PLEKHM2):c.2800G>A (p.Val934Ile)
|
|
|
NM_015164.4(PLEKHM2):c.2801T>A (p.Val934Asp)
|
|
|
NM_015164.4(PLEKHM2):c.2805+14G>A
|
|
|
NM_015164.4(PLEKHM2):c.2805+18dup
|
rs761803250
|
|
NM_015164.4(PLEKHM2):c.2805+3G>A
|
rs537871625
|
|
NM_015164.4(PLEKHM2):c.2806-11G>T
|
|
|
NM_015164.4(PLEKHM2):c.2806-15C>A
|
|
|
NM_015164.4(PLEKHM2):c.2806-16G>C
|
|
|
NM_015164.4(PLEKHM2):c.2806-20G>A
|
rs367978433
|
|
NM_015164.4(PLEKHM2):c.2806-20G>C
|
rs367978433
|
|
NM_015164.4(PLEKHM2):c.2806-6C>T
|
|
|
NM_015164.4(PLEKHM2):c.280C>T (p.Arg94Cys)
|
|
|
NM_015164.4(PLEKHM2):c.2816A>T (p.Gln939Leu)
|
rs1170562546
|
|
NM_015164.4(PLEKHM2):c.2832C>T (p.Leu944=)
|
|
|
NM_015164.4(PLEKHM2):c.284C>G (p.Ala95Gly)
|
|
|
NM_015164.4(PLEKHM2):c.2852A>G (p.Tyr951Cys)
|
rs1553161749
|
|
NM_015164.4(PLEKHM2):c.2853C>T (p.Tyr951=)
|
|
|
NM_015164.4(PLEKHM2):c.2861G>C (p.Cys954Ser)
|
|
|
NM_015164.4(PLEKHM2):c.2866T>C (p.Ser956Pro)
|
|
|
NM_015164.4(PLEKHM2):c.2890G>T (p.Ala964Ser)
|
rs1571076902
|
|
NM_015164.4(PLEKHM2):c.2902G>A (p.Gly968Arg)
|
|
|
NM_015164.4(PLEKHM2):c.2902G>C (p.Gly968Arg)
|
|
|
NM_015164.4(PLEKHM2):c.291_292inv (p.Tyr98His)
|
|
|
NM_015164.4(PLEKHM2):c.2922+1_2922+3del
|
|
|
NM_015164.4(PLEKHM2):c.2923-14A>G
|
|
|
NM_015164.4(PLEKHM2):c.2923-5C>T
|
|
|
NM_015164.4(PLEKHM2):c.2923-8C>T
|
rs1208345345
|
|
NM_015164.4(PLEKHM2):c.2935C>A (p.His979Asn)
|
rs756795422
|
|
NM_015164.4(PLEKHM2):c.2935C>T (p.His979Tyr)
|
|
|
NM_015164.4(PLEKHM2):c.2940G>A (p.Thr980=)
|
|
|
NM_015164.4(PLEKHM2):c.2946C>T (p.Ile982=)
|
|
|
NM_015164.4(PLEKHM2):c.2957C>G (p.Ser986Cys)
|
|
|
NM_015164.4(PLEKHM2):c.2961C>T (p.Asn987=)
|
rs189025469
|
|
NM_015164.4(PLEKHM2):c.2962A>G (p.Lys988Glu)
|
rs2148383647
|
|
NM_015164.4(PLEKHM2):c.2963del (p.Lys988fs)
|
rs753628124
|
|
NM_015164.4(PLEKHM2):c.2964GAA[1] (p.Lys990del)
|
rs766206014
|
|
NM_015164.4(PLEKHM2):c.3013A>G (p.Ser1005Gly)
|
|
|
NM_015164.4(PLEKHM2):c.3013A>T (p.Ser1005Cys)
|
|
|
NM_015164.4(PLEKHM2):c.3016G>A (p.Asp1006Asn)
|
|
|
NM_015164.4(PLEKHM2):c.3018C>G (p.Asp1006Glu)
|
|
|
NM_015164.4(PLEKHM2):c.301C>A (p.Leu101Ile)
|
|
|
NM_015164.4(PLEKHM2):c.3020G>A (p.Ser1007Asn)
|
rs933542967
|
|
NM_015164.4(PLEKHM2):c.3028C>T (p.Arg1010Cys)
|
|
|
NM_015164.4(PLEKHM2):c.3030C>T (p.Arg1010=)
|
|
|
NM_015164.4(PLEKHM2):c.3048C>T (p.Asp1016=)
|
|
|
NM_015164.4(PLEKHM2):c.3051C>T (p.Pro1017=)
|
|
|
NM_015164.4(PLEKHM2):c.316T>C (p.Leu106=)
|
|
|
NM_015164.4(PLEKHM2):c.346A>G (p.Asn116Asp)
|
rs2148358906
|
|
NM_015164.4(PLEKHM2):c.366G>C (p.Lys122Asn)
|
rs1315618796
|
|
NM_015164.4(PLEKHM2):c.377+12G>A
|
rs761621510
|
|
NM_015164.4(PLEKHM2):c.377+15C>T
|
|
|
NM_015164.4(PLEKHM2):c.377+19C>G
|
rs2148358955
|
|
NM_015164.4(PLEKHM2):c.378-4G>A
|
rs1486385194
|
|
NM_015164.4(PLEKHM2):c.383C>G (p.Ala128Gly)
|
rs2148359540
|
|
NM_015164.4(PLEKHM2):c.390C>T (p.Val130=)
|
rs1641493459
|
|
NM_015164.4(PLEKHM2):c.394A>C (p.Ser132Arg)
|
|
|
NM_015164.4(PLEKHM2):c.406C>G (p.Leu136Val)
|
|
|
NM_015164.4(PLEKHM2):c.416T>C (p.Phe139Ser)
|
rs1641494441
|
|
NM_015164.4(PLEKHM2):c.424T>C (p.Leu142=)
|
|
|
NM_015164.4(PLEKHM2):c.433G>A (p.Gly145Arg)
|
rs867582918
|
|
NM_015164.4(PLEKHM2):c.438A>T (p.Leu146=)
|
rs1571053374
|
|
NM_015164.4(PLEKHM2):c.448C>G (p.Arg150Gly)
|
|
|
NM_015164.4(PLEKHM2):c.460G>C (p.Asp154His)
|
|
|
NM_015164.4(PLEKHM2):c.465+14G>A
|
|
|
NM_015164.4(PLEKHM2):c.465+3G>A
|
|
|
NM_015164.4(PLEKHM2):c.466G>T (p.Asp156Tyr)
|
rs1206630127
|
|
NM_015164.4(PLEKHM2):c.50C>T (p.Ser17Leu)
|
rs1385246324
|
|
NM_015164.4(PLEKHM2):c.519G>A (p.Gln173=)
|
rs2148361019
|
|
NM_015164.4(PLEKHM2):c.542G>A (p.Arg181His)
|
|
|
NM_015164.4(PLEKHM2):c.551G>C (p.Ser184Thr)
|
|
|
NM_015164.4(PLEKHM2):c.55AAG[1] (p.Lys20del)
|
rs745635006
|
|
NM_015164.4(PLEKHM2):c.597C>T (p.Ser199=)
|
|
|
NM_015164.4(PLEKHM2):c.60+14C>T
|
|
|
NM_015164.4(PLEKHM2):c.60+18C>T
|
|
|
NM_015164.4(PLEKHM2):c.607A>G (p.Thr203Ala)
|
|
|
NM_015164.4(PLEKHM2):c.61-10T>C
|
rs1040245938
|
|
NM_015164.4(PLEKHM2):c.61-15T>G
|
|
|
NM_015164.4(PLEKHM2):c.61-16T>G
|
rs909373092
|
|
NM_015164.4(PLEKHM2):c.61-17G>C
|
|
|
NM_015164.4(PLEKHM2):c.61-19GT[3]
|
|
|
NM_015164.4(PLEKHM2):c.61-7_61-6del
|
rs367663991
|
|
NM_015164.4(PLEKHM2):c.61-8del
|
rs3830503
|
|
NM_015164.4(PLEKHM2):c.61-8dup
|
|
|
NM_015164.4(PLEKHM2):c.638C>G (p.Ala213Gly)
|
rs2067967505
|
|
NM_015164.4(PLEKHM2):c.646A>G (p.Ser216Gly)
|
rs374683119
|
|
NM_015164.4(PLEKHM2):c.652+10C>T
|
|
|
NM_015164.4(PLEKHM2):c.652+11C>G
|
rs2148361251
|
|
NM_015164.4(PLEKHM2):c.652+13A>G
|
|
|
NM_015164.4(PLEKHM2):c.652+16G>A
|
|
|
NM_015164.4(PLEKHM2):c.653-10G>C
|
rs570990579
|
|
NM_015164.4(PLEKHM2):c.655T>C (p.Tyr219His)
|
|
|
NM_015164.4(PLEKHM2):c.667G>T (p.Asp223Tyr)
|
|
|
NM_015164.4(PLEKHM2):c.680C>T (p.Ala227Val)
|
|
|
NM_015164.4(PLEKHM2):c.681A>C (p.Ala227=)
|
|
|
NM_015164.4(PLEKHM2):c.683T>C (p.Val228Ala)
|
|
|
NM_015164.4(PLEKHM2):c.703G>C (p.Asp235His)
|
rs1553160375
|
|
NM_015164.4(PLEKHM2):c.709G>A (p.Glu237Lys)
|
|
|
NM_015164.4(PLEKHM2):c.713-14C>T
|
|
|
NM_015164.4(PLEKHM2):c.713A>G (p.Asp238Gly)
|
rs2068048289
|
|
NM_015164.4(PLEKHM2):c.731C>T (p.Thr244Met)
|
|
|
NM_015164.4(PLEKHM2):c.745dup (p.Arg249fs)
|
rs2148368648
|
|
NM_015164.4(PLEKHM2):c.75T>G (p.Phe25Leu)
|
rs1161377740
|
|
NM_015164.4(PLEKHM2):c.762C>A (p.Asp254Glu)
|
|
|
NM_015164.4(PLEKHM2):c.766A>G (p.Thr256Ala)
|
|
|
NM_015164.4(PLEKHM2):c.779C>G (p.Ala260Gly)
|
|
|
NM_015164.4(PLEKHM2):c.781_784dup (p.Thr262fs)
|
rs2148368750
|
|
NM_015164.4(PLEKHM2):c.794C>T (p.Pro265Leu)
|
|
|
NM_015164.4(PLEKHM2):c.798C>G (p.Thr266=)
|
|
|
NM_015164.4(PLEKHM2):c.820G>C (p.Glu274Gln)
|
rs552932422
|
|
NM_015164.4(PLEKHM2):c.825G>A (p.Glu275=)
|
|
|
NM_015164.4(PLEKHM2):c.840G>T (p.Val280=)
|
|
|
NM_015164.4(PLEKHM2):c.843CTC[1] (p.Ser283del)
|
rs2148368927
|
|
NM_015164.4(PLEKHM2):c.846C>T (p.Ser282=)
|
|
|
NM_015164.4(PLEKHM2):c.882G>C (p.Glu294Asp)
|
|
|
NM_015164.4(PLEKHM2):c.899C>A (p.Ala300Asp)
|
|
|
NM_015164.4(PLEKHM2):c.900C>T (p.Ala300=)
|
rs2148369075
|
|
NM_015164.4(PLEKHM2):c.906C>T (p.Asp302=)
|
rs1352230279
|
|
NM_015164.4(PLEKHM2):c.908C>T (p.Pro303Leu)
|
rs1422101821
|
|
NM_015164.4(PLEKHM2):c.909G>C (p.Pro303=)
|
|
|
NM_015164.4(PLEKHM2):c.90T>C (p.Asp30=)
|
|
|
NM_015164.4(PLEKHM2):c.913G>A (p.Asp305Asn)
|
|
|
NM_015164.4(PLEKHM2):c.916G>A (p.Ala306Thr)
|
|
|
NM_015164.4(PLEKHM2):c.925G>A (p.Glu309Lys)
|
|
|
NM_015164.4(PLEKHM2):c.93G>C (p.Glu31Asp)
|
|
|
NM_015164.4(PLEKHM2):c.941+4A>T
|
rs1571063613
|
|
NM_015164.4(PLEKHM2):c.942-14C>T
|
|
|
NM_015164.4(PLEKHM2):c.980G>T (p.Ser327Ile)
|
|
|
NM_015164.4(PLEKHM2):c.98C>G (p.Pro33Arg)
|
rs760374432
|
|
NM_015164.4(PLEKHM2):c.991G>C (p.Glu331Gln)
|
|
|